A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303801



Internal ID22164659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5079317..5079667hg38UCSC Ensembl
chr3:5121002..5121352hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193627
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303801
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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